Ehlers-Danlos Syndrome is a term that combines several diseases that are hereditary in nature. This disease is characterized by hypermobility of the joints, and, in addition, increased softness of the skin and fragility of the tissues. Such a disease occurs in humans as a result of various genetic abnormalities leading to impaired collagen production. Ehlers-Danlos syndrome (ICD code 10 Q79.6.) Is distinguished by a large number of types of clinical picture that can manifest themselves by significant stretching of the skin, a tendency to bleeding, hypermobility of joints and deformation of certain areas of the musculoskeletal system, and omission of organs is not excluded.
The syndrome is a hereditary systemic connective tissue dysplasia due to insufficient development of collagen structures. Depending on the type of disease, it leads to hypermobility of the joints, extraordinary vulnerability and distensibility of the skin, a tendency to hemorrhage and bleeding, deformation of the spine and chest, myopia, strabismus, ptosis of internal organs, etc. Diagnosis is based on clinical data, results of a skin biopsy and genotyping; conduct perinatal diagnosis of the disease. Treatment consists in observing a sparing regimen, protein diet, symptomatic therapy.
Lifelong disability
Ehlers-Danlos syndrome is a rare hereditary disease associated with pathology of connective tissue. People suffering from this disease are disabled. Against the background of this pathology, people see an increased extensibility of the skin. One of the main symptoms is the fragility of the skin, and at the same time its slight vulnerability, which, as a rule, begins to appear at the age of over three years. In the case of minimal injury, tissue breaks are possible. Such tears heal very slowly and leave behind atrophic scars that have a wrinkled surface. Such scars are also called cigarette scars.
Any minor damage can be accompanied by the appearance of widespread wounds, while bleeding is usually small. In a small proportion of patients with Ehlers-Danlos syndrome, doctors observe a tendency to mild bleeding. Against this background, suturing the wound is very difficult, as they cut through the already fragile tissue.
The organs of the body in such people are also easily damaged, which can often cause various complications during certain operations. With such a diagnosis, sprains and dislocations are very characteristic. About twenty-five percent of children with this syndrome develop a hump along with curvature of the spine. At ninety percent flatfoot is fixed. Very often hernias can form along with pathological bulging of the intestinal walls. In more rare cases, bleeding may occur along with ruptures of the intestine. Unfortunately, there are no specific treatment methods for this disease. Typically, supportive care is provided to support these patients, helping to alleviate the effects of the disease.
In people with this disease, wound healing takes a very long time. The fact is that even with a slight cut, postoperative sutures may diverge. People with this diagnosis in life face many of these or other social problems. They are constantly in fear of painful and significant gaps, and, in addition, they are afraid to remain unemployed due to the deterioration of their physical condition. Such patients constantly experience emotional difficulties, realizing that with Ehlers-Danlos syndrome, disability will be lifelong.
The main causes of the syndrome
Different types of this disease can differ from each other by the types of inheritance, as well as by the indicator of anomalies at the biochemical and molecular levels, but it is genetic disorders that are the basis of all these processes. Currently, not all mechanisms for the development of types of Ehlers-Danlos syndrome are known (in the photo you can see its manifestations). Here are some of them that have been studied in detail:
- The first type of disease is accompanied by a decrease in the effectiveness of fibroblasts. Against this background, there is an increase in the production of proteoglycans, and, in addition, there are no enzymes responsible for the normal process of collagen biosynthesis.
- With the fourth type, there is a lack of collagen production.
- In the presence of the sixth type, there is a lack of enzyme substances involved in the biochemical conversion of lysine into procollagen molecules.
- With the seventh type, a pathology of the reaction of transformations of collagen into collagen is observed.
- Against the background of the tenth type, the organization of extracellular matrices is disturbed.
Ehlers-Danlos syndrome can manifest itself in the fact that the patient’s dermis is very thin, and at the same time, its structure changes along with the location of collagen fibers. Among other things, there is a quantitative increase in the performance of elastic fibers, and, in addition, collateral circulation is enhanced through vascular growth.
Types of Syndrome
In the late sixties, the first classifier of this pathology was compiled, which identified ten types of the disease at once. Over time, the study of the biochemical basis made it possible to create a more perfect separation, which scientists introduced in 1998. Next, we consider in more detail each type of pathology along with the symptoms that occur in patients with this syndrome.
What are the symptoms of Ehlers-Danlos syndrome?
Classical type and its symptoms
All types of this disease are characterized by specific symptoms that have similar or distinctive points. Directly for the classical type, autosomal dominant inheritance is characteristic. That is, in this case, in order for the disease to arise, it is enough to inherit the wrong gene from at least one of the parents. People who have this particular type of syndrome are characterized by hypermobility of the joints along with pathological stretching of the skin, a large number of scars on the integument, confirming the fragility of the tissues. The classic form of this disease is manifested by the following symptoms, which can be seen on examination by the patient:
- The presence of smooth and velvety skin.
- The presence of subcutaneous spheroids resembling grains of rice.
- The presence of subluxation of the joints.
- The presence of flat feet in humans.
- Decrease in muscle tone.
- The occurrence of postoperative hernias.
It is worth noting that patients with this disease also have sick relatives who suffer from connective tissue dysplasia.
Hypermobile type and its symptoms
In this case, we are also talking about autosomal dominant inheritance. With this type of syndrome, a person’s skin is stretched to a considerable size. In addition, very frequent breaks in the ligaments of the joints and their dislocation occur. Patients may complain of persistent pain, requiring the use of a significant number of drugs throughout their lives.
Symptoms of the vascular type
The main symptoms and manifestations of the Chernogubov Ehlers-Danlos syndrome in this case are the following signs:
- The presence of translucent skin.
- The appearance of frequent ruptures of blood vessels.
- The occurrence of uterine and intestinal bleeding.
- The presence of severe atrophy of the skin on the feet and hands.
- The appearance of ruptures of tendons and muscles.
- The occurrence of pathology of veins.
- The appearance of arterial-venous, and, in addition, cavernous fistulas.
- Decreased tissue volume of the gingival mucosa.
In some people with Ehlers-Danlos syndrome (ICD 10 Q79.6.), An increase in the layer of subcutaneous fatty tissue on the limbs and on the face is noted. Joint hypermobility in such patients is limited. The most common symptoms are spontaneous vascular ruptures, which usually occur in patients aged thirty to forty years. Such gaps are a very common cause of deaths. Another sign of the vascular type is considered significant abdominal pain that occurs against the background of bleeding.
Consider the main types of Ehlers-Danlos syndrome.
Kyphoscoliosis type and its symptoms
This type of pathology has an autosomal recessive nature of inheritance, that is, it appears only in the case of receiving the wrong genes from both parents. For this form, the main symptomatology is considered to be joint hypermobility along with muscle weakness observed since the person’s birth. Against this background, spinal curvature progresses in patients. Additional symptoms in this case are the following manifestations:
- The presence of fragility of the sclera.
- Frequent occurrence of hematomas on the skin.
- The appearance of ruptures of blood vessels.
- Reducing the size of the cornea.
- The presence of symptoms of osteoporosis.
Among other things, in such patients articular hypermobility can be observed, which is accompanied by constant dislocation. Very often, in such patients there is a congenital bilateral dislocation of the hip. Additional symptoms of the disease associated with connective tissue dysplasia are the following manifestations:
- The presence of fragility of soft tissues and skin.
- The occurrence of hematomas.
- Decrease in muscle tone.
- The development of kyphoscoliosis.
- In some cases, small growth is not excluded.
Symptoms of dermatosparaxial type
In the presence of this type, they speak of an autosomal recessive form of inheritance, characterized by the presence of sagging skin, which is very clearly visible in the framework of a visual examination. Symptoms of a soft, and at the same time loose skin structure, along with the periodic appearance of hematomas and large hernias, are referred to the dermatosparaxic type.
Ehlers-Danlos syndrome in children
In most situations, children who have this disease are born prematurely, with an early rupture of the membranes. They can be born on time, but at the same time they have too little body weight. Every tenth of such a child, doctors observe a congenital heart disease along with the omission of organs. As a result of all these manifestations, disability is established in their relation. Against the background of this syndrome in children in most cases, disability is executed for life.
With the development of this syndrome, at the beginning of life, in children, the weakness of the muscle apparatus is observed. In addition, there may be an underdevelopment of physiological reflexes along with overextensibility of joints, which entails dislocations and subluxations.
From the very beginning of their lives, such children are forced to take a large number of various medicines that stop all kinds of painful manifestations of the syndrome. Such a measure is necessary to support the functioning of the body systems and internal organs.
Diagnostics
A disease such as Ehlers-Danlos syndrome (photo of signs can be found in the article) is currently confirmed using the following diagnostic methods:
- A family history collection is needed.
- Assessment of the state of the supporting and motor systems. In the framework of this diagnostic method, the level of skin extension is determined along with the degree of extension of the joints.
- Conducting a biopsy examination of the skin.
- Perform molecular and genetic research. In this case, the degree of stretching of the joints and integuments of the skin is studied. The work of the heart, blood vessels and visual apparatus is also checked.
- Ultrasound examination of internal organs.
- Ultrasound examination of the heart along with an electrocardiogram and echocardiography.
- Fundus examination.
- Performing computed tomography of eyeballs.
- Orthostatic sampling.
Diagnosis of Ehlers-Danlos syndrome should be timely.
What is the treatment?
Unfortunately, it is impossible to cure this syndrome, the therapy is carried out to eliminate the clinical picture, and, in addition, in order to support the activity of internal organs. To stabilize the general condition of the heart, nervous and musculoskeletal system, as well as joints and skin, the following drugs are used, which form the basis for the treatment of Ehlers-Danlos syndrome:
- Treatment with B vitamins in combination with the appointment of ascorbic acid and tocopherol to patients.
- Medicines that activate metabolic processes, for example, Carnitine Chloride.
- Purpose of complexes with minerals.
- Injection of somatotropic hormones.
- The use of glucosamine - a substance involved in the production of connective tissue elements.
- Prescription of the drug "Osteokea". As a result of taking this drug, it is possible to maintain the state of bone and nerve tissues, including the muscle apparatus.
The course of treatment usually lasts at least six weeks to four times a year. In order to support the condition of patients with this syndrome, reflexology is additionally prescribed, and, in addition, diet therapy with the inclusion of a large number of products that have proteins in their composition. This is very important for maintaining the process of collagen synthesis. In certain situations, doctors prescribe surgery.
Quality along with the life expectancy of such patients directly depends on the type of disease. The most unfavorable outcome is observed with a vascular form of pathology. Other types of disease can occur relatively calmly. Be that as it may, people suffering from Ehlers-Danlos syndrome (ICD Q79.6.) Have to constantly adapt to society, and, in addition, to choose a profession.
In conclusion, it should be said that this syndrome is a real test for humans. The quality of life of such people is significantly deteriorating, serious employment problems are constantly present. In addition, they have very limited physical activity, since these people, in fact, are disabled. Women suffer especially because of this disease, because with this diagnosis they can not bear the child.